U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Nucleotide

Items: 1 to 20 of 22956

1.
2.

rs1491474498 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->GG [Show Flanks]
    Chromosome:
    3:52321877 (GRCh38)
    3:52355894 (GRCh37)
    Canonical SPDI:
    NC_000003.12:52321877:GGGG:GGGGGG
    Gene:
    DNAH1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GGGGGG=0./0 (ALFA)
    GG=0.000036/5 (GnomAD)
    GG=0.000038/10 (TOPMED)
    HGVS:
    4.

    rs1491292401 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->G [Show Flanks]
      Chromosome:
      3:52315434 (GRCh38)
      3:52349451 (GRCh37)
      Canonical SPDI:
      NC_000003.12:52315434:GGGG:GGGGG
      Gene:
      DNAH1 (Varview)
      Functional Consequence:
      upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GGGGG=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      HGVS:
      5.

      rs1491202688 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->A [Show Flanks]
        Chromosome:
        3:52394357 (GRCh38)
        3:52428374 (GRCh37)
        Canonical SPDI:
        NC_000003.12:52394357:A:AA
        Gene:
        DNAH1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AA=0./0 (ALFA)
        A=0.000026/7 (TOPMED)
        A=0.000036/5 (GnomAD)
        HGVS:
        6.

        rs1491039055 has merged into rs551410758 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
          Chromosome:
          3:52354647 (GRCh38)
          3:52388663 (GRCh37)
          Canonical SPDI:
          NC_000003.12:52354634:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:52354634:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:52354634:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:52354634:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:52354634:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:52354634:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
          Gene:
          DNAH1 (Varview)
          Functional Consequence:
          intron_variant
          Clinical significance:
          benign
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAAA=0./0 (ALFA)
          A=0.03253/19 (NorthernSweden)
          A=0.45/18 (GENOME_DK)
          HGVS:
          7.

          rs1490976933 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            3:52346929 (GRCh38)
            3:52380945 (GRCh37)
            Canonical SPDI:
            NC_000003.12:52346928:G:A
            Gene:
            DNAH1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000019/5 (TOPMED)
            HGVS:
            8.

            rs1490825901 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              3:52324598 (GRCh38)
              3:52358614 (GRCh37)
              Canonical SPDI:
              NC_000003.12:52324597:T:G
              Gene:
              DNAH1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              9.

              rs1490814512 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                3:52394745 (GRCh38)
                3:52428761 (GRCh37)
                Canonical SPDI:
                NC_000003.12:52394744:A:G
                Gene:
                DNAH1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000071/1 (ALFA)
                G=0.000007/1 (GnomAD)
                G=0.00003/8 (TOPMED)
                HGVS:
                10.

                rs1490796978 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  3:52391989 (GRCh38)
                  3:52426005 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:52391988:C:G
                  Gene:
                  DNAH1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000011/3 (TOPMED)
                  G=0.000014/2 (GnomAD)
                  HGVS:
                  11.

                  rs1490781303 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    3:52340551 (GRCh38)
                    3:52374567 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:52340550:C:T
                    Gene:
                    DNAH1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    12.

                    rs1490759993 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C,G [Show Flanks]
                      Chromosome:
                      3:52325667 (GRCh38)
                      3:52359683 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:52325666:T:C,NC_000003.12:52325666:T:G
                      Gene:
                      DNAH1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      G=0.004913/9 (Korea1K)
                      HGVS:
                      13.

                      rs1490743514 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        3:52347868 (GRCh38)
                        3:52381884 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:52347867:G:A
                        Gene:
                        DNAH1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        14.

                        rs1490690522 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AAG>- [Show Flanks]
                          Chromosome:
                          3:52341405 (GRCh38)
                          3:52375421 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:52341399:AGAAGAAG:AGAAG
                          Gene:
                          DNAH1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AGAAG=0./0 (ALFA)
                          -=0.000007/1 (GnomAD)
                          -=0.000011/3 (TOPMED)
                          HGVS:
                          15.

                          rs1490674587 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            3:52393261 (GRCh38)
                            3:52427277 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:52393260:T:A
                            Gene:
                            DNAH1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000021/3 (GnomAD)
                            A=0.000049/13 (TOPMED)
                            HGVS:
                            16.

                            rs1490642722 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              3:52384898 (GRCh38)
                              3:52418914 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:52384897:A:G
                              Gene:
                              DNAH1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0./0 (GnomAD)
                              G=0.000004/1 (TOPMED)
                              G=0.000012/3 (GnomAD_exomes)
                              HGVS:
                              17.

                              rs1490625217 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                3:52338951 (GRCh38)
                                3:52372967 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:52338950:T:C
                                Gene:
                                DNAH1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000071/1 (ALFA)
                                C=0.000007/1 (GnomAD)
                                C=0.000008/2 (TOPMED)
                                HGVS:
                                18.

                                rs1490586886 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  3:52374288 (GRCh38)
                                  3:52408304 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:52374287:A:G
                                  Gene:
                                  DNAH1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  19.

                                  rs1490483022 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    3:52371078 (GRCh38)
                                    3:52405094 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:52371077:T:C
                                    Gene:
                                    DNAH1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    20.

                                    rs1490454391 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      3:52316347 (GRCh38)
                                      3:52350363 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:52316346:A:G
                                      Gene:
                                      DNAH1 (Varview)
                                      Functional Consequence:
                                      intron_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000011/3 (TOPMED)
                                      G=0.000014/2 (GnomAD)
                                      HGVS:

                                      Display Settings:

                                      Format
                                      Items per page
                                      Sort by

                                      Send to:

                                      Choose Destination

                                      Supplemental Content

                                      Find related data

                                      Recent activity